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GATAD2B Gene Mental retardation, autosomal dominant type 18 NGS Genetic Test

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GATAD2B Gene Mental retardation, autosomal dominant type 18 NGS Genetic Test

Short Name: GATAD2B MRD18 NGS Test

Also known as: GATAD2B Gene Sequencing Test, MRD18 Genetic Test, GATAD2B-related Intellectual Disability NGS Test

GATAD2B Gene Mental retardation, autosomal dominant type 18 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are provided within 3 to 4 weeks after the sample reaches the laboratory. If additional confirmatory analysis is required, reporting time may be extended.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to detect pathogenic variants in the GATAD2B gene to confirm a diagnosis of GATAD2B-related intellectual disability (autosomal dominant type 18). It supports clinicians in establishing a molecular diagnosis, guiding prognosis, offering recurrence-risk counselling to families and determining appropriate management and surveillance strategies.

Test Code
4236
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are provided within 3 to 4 weeks after the sample reaches the laboratory. If additional confirmatory analysis is required, reporting time may be extended.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Please carry your prescription, referral note and patient ID. No fasting is required. Continue all medications unless your physician advises otherwise.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

A small blood sample will be collected by a trained phlebotomist. For FTA card collection, a single drop of blood is placed on the card.

Step 3

Report Delivery

No special precautions are needed. You may resume regular diet and activities immediately after sample collection.

Timeline: Reports are provided within 3 to 4 weeks after the sample reaches the laboratory. If additional confirmatory analysis is required, reporting time may be extended.

Patient Instructions

1
Before the Test:Please carry your prescription, referral note and patient ID. No fasting is required. Continue all medications unless your physician advises otherwise.
2
During the Test:A small blood sample will be collected by a trained phlebotomist. For FTA card collection, a single drop of blood is placed on the card.
3
After the Test:No special precautions are needed. You may resume regular diet and activities immediately after sample collection.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the GATAD2B gene to confirm a diagnosis of GATAD2B-related intellectual disability (autosomal dominant type 18). It supports clinicians in establishing a molecular diagnosis, guiding prognosis, offering recurrence-risk counselling to families and determining appropriate management and surveillance strategies.

How to Prepare

  • Blood should be collected in an EDTA vacutainer and mixed gently.
  • If using an FTA card, allow the blood spot to dry completely before packing.
  • Extracted DNA should be stored and transported in a sterile DNA tube.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"A clinician with experience in genetic disorders should interpret this report. A neurologist or paediatrician may also be involved for managing neurodevelopmental symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA vacutainer for blood / sterile tube for DNA / FTA card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Blood: 24-48 hours at 2-8°C
Extracted DNA: stable for up to 1 week at 4°C; for longer periods store at -80°C
FTA card: stable at room temperature for several months
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Incorrectly labelled sample
  • Improperly packed or transported sample
  • Sample received more than 48 hours after collection without cold chain

Understanding Your Results

The clinical report should be interpreted in the context of the patient's clinical presentation and family history by a qualified clinical geneticist or physician.
📊

Positive / Pathogenic variant

Confirms the diagnosis of GATAD2B-related mental retardation, autosomal dominant type 18. Genetic counseling is strongly recommended.

📊

Negative / No pathogenic variant

Does not exclude GATAD2B-related disorder, especially if clinical suspicion remains high. Further genetic testing may be discussed.

📊

Variant of uncertain significance (VUS)

The result is not diagnostic. Additional segregation studies, functional studies or re-evaluation may be required.

⚠️ When to Consult a Doctor:

Consult your doctor if you or your child has symptoms such as intellectual disability, delayed speech, behavioural difficulties, seizures, low muscle tone, or unexplained learning difficulties. A referral to a clinical geneticist or neurologist is advised for genetic testing and counselling.

Limitations

  • ⚠This NGS test is designed to detect small sequence variants in coding regions and splice sites of GATAD2B. Large structural rearrangements, deep intronic variants or methylation changes may not be identified.
  • ⚠A negative result does not rule out other genetic causes of intellectual disability.
  • ⚠Variant interpretation may evolve over time as new scientific evidence becomes available.
  • ⚠Raw data, FASTQ and VCF files are provided for further analysis, but only the clinical report is considered diagnostic.

Risks & Considerations

  • ●Very low risk of bruising, bleeding or infection at the blood draw site
  • ●No radiation or contrast exposure
  • ●Potential psychological impact of an uncertain or positive genetic result

Interfering Factors

  • ●Inadequate DNA quality or quantity
  • ●Sample contamination during collection
  • ●Rare technical artifacts in sequencing
  • ●Complex genomic rearrangements may require additional testing

Compare With Similar Tests

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Frequently Asked Questions

What is GATAD2B gene mental retardation autosomal dominant type 18?
It is a rare genetic neurodevelopmental disorder caused by mutations in the GATAD2B gene, leading to intellectual disability, speech delay, behavioural issues, and sometimes seizures or low muscle tone.
How is this NGS genetic test performed?
Next-generation sequencing is performed on DNA extracted from your blood or FTA card. The coding regions of GATAD2B are sequenced and analyzed for pathogenic variants. The lab provides raw data, FASTQ and VCF files along with the clinical report.
What is the cost of the GATAD2B NGS genetic test at DNA Labs India?
The test costs Rs 20000.0 and includes free home sample collection for online bookings across India.
What sample is required?
Blood or extracted DNA or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required. You can continue your normal diet and medications unless your physician advises otherwise.
How long does it take to get reports?
Reports are typically available in 3 to 4 weeks.
What does a positive GATAD2B test result mean?
A positive result means a pathogenic variant in GATAD2B has been identified, confirming the clinical diagnosis. Genetic counseling is strongly recommended.
What does a negative result mean?
A negative result means no pathogenic variant was found in the GATAD2B gene. However, it does not rule out all genetic causes of intellectual disability; further testing may be discussed.
Why are raw data, FASTQ and VCF files important?
These files allow independent re-analysis, transparency and future re-interpretation if new information becomes available. DNA Labs India provides these files with the clinical report.
Is this test available across India?
Yes, the test is available in over 200 cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, etc., with free home sample collection for online bookings.
Who should order this test?
This test is usually ordered by a neurologist, pediatrician, or clinical geneticist for individuals showing developmental delay, intellectual disability, seizures, or other features suggestive of GATAD2B-related MRD18.
Is the GATAD2B NGS test covered by insurance?
Health insurance coverage depends on the policy. Some government and private schemes may provide partial or full coverage if medically indicated. Please confirm with your insurance provider or our patient support team.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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